ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) (rs730882199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162100 SCV000196385 likely pathogenic Regression of motor development with severe dystonia and corresponding basal ganglia lesions 2014-12-01 no assertion criteria provided research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171331 SCV000221528 likely pathogenic not provided no assertion criteria provided research

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